Cited by 140Neurogenetic and Muscular Disorders ResearchAmyotrophic Lateral Sclerosis ResearchLysosomal Storage Disorders Research

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Spinal muscular atrophy—recent therapeutic advances for an old challenge

Faravelli, Irene, Nizzardo, Monica, Comi, Giacomo P., Corti, Stefania·2015·Nature Reviews Neurology

DOI 10.1038/nrneurol.2015.77

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Abstract

In the past decade, improved understanding of spinal muscular atrophy (SMA) aetiopathogenesis has brought us to a historical turning point: we are at the verge of development of disease-modifying treatments for this hitherto incurable disease. The increasingly precise delineation of molecular targets within the survival of motor neuron (SMN) gene locus has led to the development of promising therapeutic strategies. These novel avenues in treatment for SMA include gene therapy, molecular therapy with antisense oligonucleotides, and small molecules that aim to increase expression of SMN protein. Stem cell studies of SMA have provided an in vitro model for SMA, and stem cell transplantation could be used as a complementary strategy with a potential to treat the symptomatic phases of the disease. Here, we provide an overview of established data and novel insights into SMA pathogenesis, including discussion of the crucial function of the SMN protein. Preclinical evidence and recent advances from ongoing clinical trials are thoroughly reviewed. The final remarks are dedicated to future clinical perspectives in this rapidly evolving field, with a broad discussion on the comparison between the outlined therapeutic approaches and the remaining open questions.

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Tetracyclines That Promote SMN2 Exon 7 Splicing as Therapeutics for Spinal Muscular Atrophy
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Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy
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See all 140

Authors: Faravelli, I., Nizzardo, M., Comi, G. P., & Corti, S.
Affiliations: University of Milan (IT)
Corresponding author: Corti, Stefania
ORCID: Faravelli, Irene
Nizzardo, Monica
Comi, Giacomo P.
Corti, Stefania
Venue: Nature Reviews Neurology
Publisher: Springer Science and Business Media LLC
Published: 2015-05-19
Volume: 11
Issue: 6
Pages: 351-359
ISSN: 1759-4758 (ISSN-L)
1759-4766
DOI: 10.1038/nrneurol.2015.77
OpenAlex: W1518213415
Cited by: 138
References: 114
Citations by year: 2026: 4 · 2025: 6 · 2024: 6 · 2023: 7 · 2022: 7 · 2021: 15 · 2020: 8 · 2019: 15 · 2018: 19 · 2017: 20 · 2016: 25 · 2015: 6
FWCI: 3.28
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Reviews Neurology (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Genetics (clinical) › Neurogenetic and Muscular Disorders Research
Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
Keywords: spinal muscular atrophy, SMN protein, disease-modifying therapy, gene therapy, antisense oligonucleotides, small molecules, stem cell transplantation, clinical trials
MeSH terms: Animals, Clinical Trials as Topic, Diagnosis, Differential, Humans, Motor Neurons, Muscular Atrophy, Spinal, Oligonucleotides, Antisense, SMN Complex Proteins

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Spinal muscular atrophy—recent therapeutic advances for an old challenge

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